Phenotypes Associated with This Genotype

Genotype
MGI:2680797

• Allelic Composition: Clcn7^tm1Tjj/Clcn7^tm1Tjj
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:67273 )

• from mating between heterozygous animals, the full 25% of mutant embryos were observed at E18

• however, only 16% existed at P7 and none survived past 6-7 weeks

craniofacial

failure of tooth eruption ( J:67273 )

• teeth were formed but did not erupt

growth/size/body

abnormal head morphology ( J:67273 )

• mice were described as having dysmorphic heads

failure of tooth eruption ( J:67273 )

• teeth were formed but did not erupt

decreased body size ( J:67273 )

• mice were smaller than littermates

• growth retardation became apparent during the second postnatal week and could not be prevent by feeding a liquid diet

limbs/digits/tail

short limbs ( J:67273 )

• radiographs of the tibias revealed that the shortened bones lacked a marrow cavity

skeleton

failure of tooth eruption ( J:67273 )

• teeth were formed but did not erupt

abnormal osteoclast morphology ( J:67273 )

• numerous abnormally elongated osteoclasts were present in the bones of mutant mice

• electron microscopy revealed only rudimentary ruffled border membranes

abnormal osteoclast physiology ( J:67273 )

• osteoclasts were present in normal numbers but failed to resorb bone

abnormal bone marrow cavity morphology ( J:67273 )

• radiographs of the tibias revealed that the shortened bones lacked a marrow cavity

increased osteoblast cell number ( J:67273 )

• an increase in the number of osteoblasts were observed due to the enlarged surface of osteopetrotic bones

osteopetrosis ( J:67273 )

• the ratio of total bone volume to trabecular volume was increased about 7-fold in mutants mice at day P42

abnormal bone ossification ( J:67273 )

• subtle changes in bone morphology were observable at E16 at sites of beginning mineralization

decreased bone resorption ( J:67273 )

vision/eye

optic nerve degeneration ( J:67273 )

• optic nerve degeneration noted as beginning at P14

• ganglion cells were only mildly reduced at P28, suggesting that degeneration of the optic nerve and the retina are independent events

retina degeneration ( J:67273 )

• severe degeneration of photoreceptors beginning around P15

• only a few photoreceptor cells remained at P28

hematopoietic system

abnormal osteoclast morphology ( J:67273 )

• numerous abnormally elongated osteoclasts were present in the bones of mutant mice

• electron microscopy revealed only rudimentary ruffled border membranes

abnormal osteoclast physiology ( J:67273 )

• osteoclasts were present in normal numbers but failed to resorb bone

immune system

abnormal osteoclast morphology ( J:67273 )

• numerous abnormally elongated osteoclasts were present in the bones of mutant mice

• electron microscopy revealed only rudimentary ruffled border membranes

abnormal osteoclast physiology ( J:67273 )

• osteoclasts were present in normal numbers but failed to resorb bone

nervous system

optic nerve degeneration ( J:67273 )

• optic nerve degeneration noted as beginning at P14

• ganglion cells were only mildly reduced at P28, suggesting that degeneration of the optic nerve and the retina are independent events

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive osteopetrosis 4		DOID:0110944	OMIM:611490	J:67273